Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy

by S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova
Published 2015-09-01

A case of Niemann – Pick disease type C

by Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova
Published 2013-12-01

ACCOUNT IMPROVEMENT FOR LESS VALUE AND LIFE-LIMITED SUBJECTS IN TERMS OF INDUSTRIAL PRODUCTION

by R. B. Sokolskaia, V. D. Zelykman, E. Yu. Zakharova
Published 2011-03-01

A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab

by S. O. Salugina, E. S. Fedorov, E. Yu. Zakharova, M. D. Evsikova
Published 2015-03-01

Infantile Pompe disease: Clinical picture, diagnosis, and treatment

by N. P. Kotlukova, S. V. Mikhailova, T. M. Bukina, E. Yu. Zakharova
Published 2015-02-01

The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromes (CAPS): clinical experience

by Svetlana Olegovna Salugina, E. S. Fedorov, N. N. Kuzmina, E. Yu. Zakharova
Published 2014-12-01

Clinical polymorphism of Allgrove (triple-A) syndrome in children: Possibilities for early diagnosis and approaches to therapy

by E. V. Tozliyan, V. S. Sukhorukov, E. Yu. Zakharova, M. N. Kharabadze
Published 2016-02-01

CASE OF USING THE INHIBITOR OF INTERLEUKIN 1 CANACINUMAB IN PATIENTS WITH AUTO INFLAMMATORY DISEASES

by S. O. Salugina, E. S. Fedorov, N. N. Kuz'mina, E. Yu. Zakharova
Published 2015-04-01

HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW

by S S Rodionova, E Yu Zakharova, Yu V Buklemishev, U R Khakimov, S V Lapkina
Published 2015-12-01

Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinu...

by E. S. Fedorov, S. O. Salugina, E. Yu. Zakharova, E. A. Kamenets, A. N. Gerasimenko
Published 2020-09-01

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

by S. O. Salugina, E. A. Kamenets, E. S. Fedorov, E. Yu. Zakharova, M. I. Kaleda
Published 2017-09-01

AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE

by S. O. Salugina, E. S. Fedorov, N. N. Kuzmina, E. A. Kamenets, E. Yu. Zakharova
Published 2016-07-01

PREDICTIVE VALUE OF THE GLOBAL LONGITUDINAL STRAIN IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS

by S. M. Komissarova, E. Yu. Zakharova, Т. V. Sevruk, I. B. Ustinova, O. V. Krasko
Published 2018-03-01

Infantile-onset Pompe disease (the first case diagnosed in Voronezh)

by V. P. Fedotov, I. S. Kleimenova, T. V. Fedotova, D. S. Stepanov, E. A. Proskurina, E. Yu. Zakharova
Published 2015-02-01

Alpha-mannosidosis in children: analysis of the observations and treatment options

by A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, M. A. Dantseva, E. Yu. Zakharova
Published 2020-09-01

NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

by S.V. Mikhailova, E.Yu. Zakharova, T.M. Bukina, D.A. Savin, S.V. Piliya, A.S. Petrukhin
Published 2010-09-01

NIMANN-PICK TYPE C DISEASE. CLINICAL CASE STUDIES

by S.V. Mikhailova, E.Yu. Zakharova, T.M. Bukina, D.A. Savin, S.V. Piliya, A.S. Petrukhin
Published 2010-09-01

A clinical case of adult onset Niemann–Pick disease type C

by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin
Published 2016-11-01

Disorders of carnitine metabolism in premature infants with fan-associated pneumonia

by V. V. Garmaeva, G. M. Dementieva, M. V. Kushnareva, G. V. Baydakova, V. S. Sukhorukov, E. S. Keshishyan, E. Yu. Zakharova
Published 2019-09-01

Hyperammonemia in Neonatologist Practice

by A. V. Degtyareva, E. V. Sokolova, E. Yu. Zakharova, M. Kh. Isaeva, M. Yu. Vysokikh, T. Yu. Ivanets, D. N. Degtyarev
Published 2021-01-01